Hereditary motor and sensory neuropathy, Okinawa type

Orpha code: 90117OMIM code: 604484

Definicja

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

Disease data
Klasyfikacja

Disease

Synonimy
HMSNP
Dziedziczna neuropatia ruchowa i czuciowa, typ proksymalny
HMSNP
Hereditary motor and sensory neuropathy, proximal type
Kod ORPHA
90117
Kod OMIM
604484
Kod ICD10
G60.0
Kod ICD11
8C20.Y

No additional description.

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